QQ plots for SKAT and AMELIA analyses using primary controls.

<p>QQ plots for SKAT and AMELIA analyses using primary controls.</p

QQ plots of single-variant association test statistics for all exonic variants (A) and for exonic variants with MAF>5% (B).

<p>QQ plots of single-variant association test statistics for all exonic variants (A) and for exonic variants with MAF>5% (B).</p

Flowchart describing each of the 3 main analytical pathways used to explore the genetic architecture of smoking resistance.

<p>Analyses are described in full in the methods. MAF: minor allele frequency.</p

SKAT and AMELIA analysis results using primary controls, ranked by SKAT P value.

#<p>Only genes with >4 SNPs with MAF<5% were tested by AMELIA.</p

Single variant association results for 20 top exonic SNPs.

<p>MAF = minor allele frequency.</p><p>*Fisher's Exact test of case and primary control allele counts.</p>1<p>Borderline evidence for association with airflow obstruction (P = 0.052 in ever-smokers) <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004314#pgen.1004314-Wilk2" target="_blank">[9]</a>.</p>2<p>Weak evidence of association with airflow obstruction (P = 0.04) <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004314#pgen.1004314-Wilk2" target="_blank">[9]</a>.</p

Immunohistochemistry staining for Coiled-Coil Domain-Containing Protein 38 (CCDC38) in a normal human bronchial epithelium at ×40 magnification.

<p>When compared to the unstained isotype control (Rabbit IgG) (A), staining identifies moderate cytoplasmic expression of CCDC38 particularly in the columnar epithelial cells and the bronchial smooth muscle layer (B). Image representative of three independent staining procedures.</p

Gene Ontology (GO) terms reaching Bonferroni corrected significance for enrichment amongst the 1533 genes harbouring novel putatively functional variants in the resistant smokers, using DAVID.

<p>Gene Ontology (GO) terms reaching Bonferroni corrected significance for enrichment amongst the 1533 genes harbouring novel putatively functional variants in the resistant smokers, using DAVID.</p